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NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile) AND Autosomal recessive nonsyndromic hearing loss 59

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2006
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000001361.3

Allele description [Variation Report for NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile)]

NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile)

Gene:
PJVK:pejvakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile)
HGVS:
  • NC_000002.12:g.178453570C>T
  • NG_009053.1:g.2662G>A
  • NG_012186.1:g.7135C>T
  • NM_001042702.5:c.161C>TMANE SELECT
  • NM_001353775.2:c.170C>T
  • NM_001353776.2:c.266C>T
  • NM_001353777.1:c.-317C>T
  • NM_001353778.2:c.-317C>T
  • NM_001369912.1:c.161C>T
  • NP_001036167.1:p.Thr54Ile
  • NP_001340704.1:p.Thr57Ile
  • NP_001340705.1:p.Thr89Ile
  • NP_001356841.1:p.Thr54Ile
  • NC_000002.11:g.179318297C>T
  • Q0ZLH3:p.Thr54Ile
Protein change:
T54I; THR54ILE
Links:
UniProtKB: Q0ZLH3#VAR_027387; OMIM: 610219.0002; dbSNP: rs118203988
NCBI 1000 Genomes Browser:
rs118203988
Molecular consequence:
  • NM_001353777.1:c.-317C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001353778.2:c.-317C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001042702.5:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353775.2:c.170C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353776.2:c.266C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369912.1:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 59
Synonyms:
Deafness, autosomal recessive 59
Identifiers:
MONDO: MONDO:0012445; MedGen: C1857744; Orphanet: 90636; OMIM: 610220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021511OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2006) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.

Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C.

Nat Genet. 2006 Jul;38(7):770-8. Epub 2006 Jun 25.

PubMed [citation]
PMID:
16804542

Details of each submission

From OMIM, SCV000021511.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a single consanguineous Iranian family, Delmaghani et al. (2006) found that autosomal recessive nonsyndromic deafness due to a neuronal defect (DFNB59; 610220) segregated with a homozygous thr54-to-ile (T54I) mutation in pejvakin. The amino acid substitution arose from a 161C-T transition in exon 2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022